Details for: NTRK1

Gene ID: 4914

Symbol: NTRK1

Ensembl ID: ENSG00000198400

Description: neurotrophic receptor tyrosine kinase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 35.8095
    Cell Significance Index: -5.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 23.4581
    Cell Significance Index: -5.9500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 8.7383
    Cell Significance Index: -3.5500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.8177
    Cell Significance Index: -5.9400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 3.6478
    Cell Significance Index: 88.3600
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.2510
    Cell Significance Index: 24.8000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.5317
    Cell Significance Index: 6.4500
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.4280
    Cell Significance Index: 3.7700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.2789
    Cell Significance Index: 2.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1866
    Cell Significance Index: 27.1200
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.1723
    Cell Significance Index: 1.4900
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.1612
    Cell Significance Index: 1.7900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1379
    Cell Significance Index: 7.2400
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0493
    Cell Significance Index: 0.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0458
    Cell Significance Index: 2.9600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0440
    Cell Significance Index: 30.4200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0379
    Cell Significance Index: 0.3100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0333
    Cell Significance Index: 1.8700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0292
    Cell Significance Index: 0.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0259
    Cell Significance Index: 5.1900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0045
    Cell Significance Index: 2.8600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0033
    Cell Significance Index: 6.2900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0004
    Cell Significance Index: -0.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0037
    Cell Significance Index: -6.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0042
    Cell Significance Index: -6.5200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0055
    Cell Significance Index: -7.5200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0076
    Cell Significance Index: -5.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0085
    Cell Significance Index: -3.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0090
    Cell Significance Index: -6.6900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0092
    Cell Significance Index: -2.6400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0094
    Cell Significance Index: -4.2500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0095
    Cell Significance Index: -5.1800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0115
    Cell Significance Index: -6.4900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0118
    Cell Significance Index: -2.1200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0119
    Cell Significance Index: -0.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0145
    Cell Significance Index: -0.7300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0219
    Cell Significance Index: -4.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0249
    Cell Significance Index: -3.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0249
    Cell Significance Index: -1.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0251
    Cell Significance Index: -4.2800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0279
    Cell Significance Index: -1.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0312
    Cell Significance Index: -6.5700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0375
    Cell Significance Index: -4.8500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0416
    Cell Significance Index: -1.9400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0432
    Cell Significance Index: -5.1000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0434
    Cell Significance Index: -4.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0436
    Cell Significance Index: -1.6500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0447
    Cell Significance Index: -5.1200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0467
    Cell Significance Index: -2.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0487
    Cell Significance Index: -5.6700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0530
    Cell Significance Index: -5.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0655
    Cell Significance Index: -4.8800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0659
    Cell Significance Index: -4.4300
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: -0.0674
    Cell Significance Index: -0.8200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0690
    Cell Significance Index: -5.3000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0692
    Cell Significance Index: -1.7800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0722
    Cell Significance Index: -1.5800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0732
    Cell Significance Index: -3.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0752
    Cell Significance Index: -3.9200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0760
    Cell Significance Index: -1.5900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0780
    Cell Significance Index: -2.7100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0815
    Cell Significance Index: -5.0100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0849
    Cell Significance Index: -2.3100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0864
    Cell Significance Index: -5.3000
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0869
    Cell Significance Index: -1.0800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0964
    Cell Significance Index: -4.3700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0984
    Cell Significance Index: -2.7500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1026
    Cell Significance Index: -1.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1099
    Cell Significance Index: -3.1500
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1136
    Cell Significance Index: -1.2400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1148
    Cell Significance Index: -4.0200
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1187
    Cell Significance Index: -1.7300
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.1190
    Cell Significance Index: -1.6300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1192
    Cell Significance Index: -4.8900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1212
    Cell Significance Index: -1.5300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1223
    Cell Significance Index: -2.0600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1231
    Cell Significance Index: -3.9200
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.1244
    Cell Significance Index: -1.5800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1245
    Cell Significance Index: -3.3300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1291
    Cell Significance Index: -1.9100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1307
    Cell Significance Index: -4.2800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1315
    Cell Significance Index: -1.4300
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.1371
    Cell Significance Index: -1.9500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1382
    Cell Significance Index: -1.9800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1403
    Cell Significance Index: -4.1200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1496
    Cell Significance Index: -3.7300
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1503
    Cell Significance Index: -1.6600
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.1511
    Cell Significance Index: -1.2500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1529
    Cell Significance Index: -4.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1560
    Cell Significance Index: -4.1800
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.1592
    Cell Significance Index: -1.5400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1605
    Cell Significance Index: -4.0900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1605
    Cell Significance Index: -2.7500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1648
    Cell Significance Index: -4.1100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1661
    Cell Significance Index: -2.3300
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1670
    Cell Significance Index: -1.6200
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: -0.1671
    Cell Significance Index: -0.9500
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1716
    Cell Significance Index: -1.6800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1721
    Cell Significance Index: -2.8800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** NTRK1 is a transmembrane receptor tyrosine kinase that contains an extracellular domain with a characteristic ligand-binding site for NGF and other neurotrophins. The receptor has two tyrosine kinase domains, which are responsible for autophosphorylation and the activation of downstream signaling pathways. NTRK1 is highly expressed in the nervous system, particularly in neurons, glial cells, and other cells involved in neural development and function. The gene is also expressed in other tissues, including the kidney, intestine, and heart. **Pathways and Functions** NTRK1 is involved in a wide range of cellular processes, including: 1. **Neurotrophin signaling**: NTRK1 binds to NGF and other neurotrophins, leading to the activation of downstream signaling pathways that regulate cell survival, differentiation, and migration. 2. **Axon guidance**: NTRK1 plays a crucial role in the formation of axons and the guidance of axonal growth. 3. **Neuronal cell body**: NTRK1 regulates the development and maintenance of the neuronal cell body, including the formation of dendrites and synapses. 4. **Cell proliferation and differentiation**: NTRK1 regulates cell proliferation and differentiation in the nervous system, particularly during development. 5. **Survival and death**: NTRK1 regulates cell survival and death in the nervous system, particularly in response to axonal injury or other forms of cellular stress. **Clinical Significance** Dysregulation of NTRK1 has been implicated in various neurological disorders, including: 1. **Neurodegenerative diseases**: NTRK1 has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). 2. **Cancer**: NTRK1 is overexpressed in certain types of cancer, including breast cancer, lung cancer, and melanoma. 3. **Neuropathic pain**: NTRK1 has been implicated in the development of neuropathic pain, particularly in response to axonal injury or other forms of cellular stress. 4. **Developmental disorders**: NTRK1 has been implicated in the development of developmental disorders, such as autism spectrum disorder and intellectual disability. In conclusion, NTRK1 is a critical gene that plays a central role in the development, growth, and maintenance of the nervous system. Its dysregulation has been implicated in various neurological disorders, including neurodegenerative diseases, cancer, neuropathic pain, and developmental disorders. Further research is needed to fully understand the mechanisms by which NTRK1 regulates cellular processes and to develop effective therapeutic strategies for the treatment of these disorders.

Genular Protein ID: 1869237471

Symbol: NTRK1_HUMAN

Name: High affinity nerve growth factor receptor

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2927393

Title: Molecular and biochemical characterization of the human trk proto-oncogene.

PubMed ID: 2927393

DOI: 10.1128/mcb.9.1.24-33.1989

PubMed ID: 7823156

Title: Human trks: molecular cloning, tissue distribution, and expression of extracellular domain immunoadhesins.

PubMed ID: 7823156

DOI: 10.1523/jneurosci.15-01-00477.1995

PubMed ID: 9290260

Title: Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor.

PubMed ID: 9290260

DOI: 10.1007/bf02766957

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15870692

Title: Methylation adjacent to negatively regulating AP-1 site reactivates TrkA gene expression during cancer progression.

PubMed ID: 15870692

DOI: 10.1038/sj.onc.1208697

PubMed ID: 2869410

Title: A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences.

PubMed ID: 2869410

DOI: 10.1038/319743a0

PubMed ID: 2966065

Title: Activation of the receptor kinase domain of the trk oncogene by recombination with two different cellular sequences.

PubMed ID: 2966065

DOI: 10.1002/j.1460-2075.1988.tb02794.x

PubMed ID: 7565764

Title: The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain.

PubMed ID: 7565764

DOI: 10.1128/mcb.15.11.6118

PubMed ID: 1532241

Title: TRK-T1 is a novel oncogene formed by the fusion of TPR and TRK genes in human papillary thyroid carcinomas.

PubMed ID: 1532241

PubMed ID: 1850821

Title: High-affinity NGF binding requires coexpression of the trk proto-oncogene and the low-affinity NGF receptor.

PubMed ID: 1850821

DOI: 10.1038/350678a0

PubMed ID: 1849459

Title: The trk proto-oncogene encodes a receptor for nerve growth factor.

PubMed ID: 1849459

DOI: 10.1016/0092-8674(91)90419-y

PubMed ID: 1281417

Title: Nerve growth factor mediates signal transduction through trk homodimer receptors.

PubMed ID: 1281417

DOI: 10.1016/0896-6273(92)90066-m

PubMed ID: 8325889

Title: Tissue-specific alternative splicing generates two isoforms of the trkA receptor.

PubMed ID: 8325889

DOI: 10.1016/s0021-9258(18)82449-8

PubMed ID: 7510697

Title: A Trk nerve growth factor (NGF) receptor point mutation affecting interaction with phospholipase C-gamma 1 abolishes NGF-promoted peripherin induction but not neurite outgrowth.

PubMed ID: 7510697

DOI: 10.1016/s0021-9258(17)37053-9

PubMed ID: 8155326

Title: Trk receptors use redundant signal transduction pathways involving SHC and PLC-gamma 1 to mediate NGF responses.

PubMed ID: 8155326

DOI: 10.1016/0896-6273(94)90223-2

PubMed ID: 11244088

Title: The atypical protein kinase C-interacting protein p62 is a scaffold for NF-kappaB activation by nerve growth factor.

PubMed ID: 11244088

DOI: 10.1074/jbc.c000869200

PubMed ID: 15488758

Title: TrkA alternative splicing: a regulated tumor-promoting switch in human neuroblastoma.

PubMed ID: 15488758

DOI: 10.1016/j.ccr.2004.09.011

PubMed ID: 21102451

Title: Sortilin associates with Trk receptors to enhance anterograde transport and neurotrophin signaling.

PubMed ID: 21102451

DOI: 10.1038/nn.2689

PubMed ID: 22649032

Title: Structural and functional insights into lipid-bound nerve growth factors.

PubMed ID: 22649032

DOI: 10.1096/fj.12-207316

PubMed ID: 26446845

Title: GGA3 mediates TrkA endocytic recycling to promote sustained Akt phosphorylation and cell survival.

PubMed ID: 26446845

DOI: 10.1091/mbc.e15-02-0087

PubMed ID: 27445338

Title: Ubiquitin-specific Protease 36 (USP36) Controls Neuronal Precursor Cell-expressed Developmentally Down-regulated 4-2 (Nedd4-2) Actions over the Neurotrophin Receptor TrkA and Potassium Voltage-gated Channels 7.2/3 (Kv7.2/3).

PubMed ID: 27445338

DOI: 10.1074/jbc.m116.722637

PubMed ID: 28177573

Title: Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

PubMed ID: 28177573

DOI: 10.1111/jns.12205

PubMed ID: 8524391

Title: Structure and ligand recognition of the phosphotyrosine binding domain of Shc.

PubMed ID: 8524391

DOI: 10.1038/378584a0

PubMed ID: 10388563

Title: Crystal structures of the neurotrophin-binding domain of TrkA, TrkB and TrkC.

PubMed ID: 10388563

DOI: 10.1006/jmbi.1999.2816

PubMed ID: 10490030

Title: Crystal structure of nerve growth factor in complex with the ligand-binding domain of the TrkA receptor.

PubMed ID: 10490030

DOI: 10.1038/43705

PubMed ID: 17196528

Title: Structural and mechanistic insights into nerve growth factor interactions with the TrkA and p75 receptors.

PubMed ID: 17196528

DOI: 10.1016/j.neuron.2006.09.034

PubMed ID: 8696348

Title: Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

PubMed ID: 8696348

DOI: 10.1038/ng0896-485

PubMed ID: 10090906

Title: A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.

PubMed ID: 10090906

DOI: 10.1086/302319

PubMed ID: 10330344

Title: Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

PubMed ID: 10330344

DOI: 10.1086/302422

PubMed ID: 10443680

Title: Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.

PubMed ID: 10443680

DOI: 10.1210/jcem.84.8.5901

PubMed ID: 10233776

Title: A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.

PubMed ID: 10233776

DOI: 10.1046/j.1523-1747.1999.00569.x

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10861667

Title: Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

PubMed ID: 10861667

DOI: 10.1002/1096-8628(20000619)92:5<353::aid-ajmg12>3.0.co;2-c

PubMed ID: 10982191

Title: Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

PubMed ID: 10982191

DOI: 10.1007/s004390051018

PubMed ID: 10567924

Title: The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.

PubMed ID: 10567924

DOI: 10.1002/(sici)1097-4652(200001)182:1<127::aid-jcp14>3.0.co;2-0

PubMed ID: 11310631

Title: A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

PubMed ID: 11310631

DOI: 10.1002/ana.103

PubMed ID: 11159935

Title: Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

PubMed ID: 11159935

DOI: 10.1093/hmg/10.3.179

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 18077166

Title: Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

PubMed ID: 18077166

DOI: 10.1016/j.nmd.2007.10.005

PubMed ID: 22302274

Title: Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

PubMed ID: 22302274

DOI: 10.1007/s00415-011-6397-y

PubMed ID: 28328124

Title: Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

PubMed ID: 28328124

DOI: 10.1002/ajmg.a.38120

PubMed ID: 27676246

Title: A comprehensive functional analysis of NTRK1 missense mutations causing hereditary sensory and autonomic neuropathy type IV (HSAN IV).

PubMed ID: 27676246

DOI: 10.1002/humu.23123

Sequence Information:

  • Length: 796
  • Mass: 87497
  • Checksum: 6C15C721E336B601
  • Sequence:
  • MLRGGRRGQL GWHSWAAGPG SLLAWLILAS AGAAPCPDAC CPHGSSGLRC TRDGALDSLH 
    HLPGAENLTE LYIENQQHLQ HLELRDLRGL GELRNLTIVK SGLRFVAPDA FHFTPRLSRL 
    NLSFNALESL SWKTVQGLSL QELVLSGNPL HCSCALRWLQ RWEEEGLGGV PEQKLQCHGQ 
    GPLAHMPNAS CGVPTLKVQV PNASVDVGDD VLLRCQVEGR GLEQAGWILT ELEQSATVMK 
    SGGLPSLGLT LANVTSDLNR KNVTCWAEND VGRAEVSVQV NVSFPASVQL HTAVEMHHWC 
    IPFSVDGQPA PSLRWLFNGS VLNETSFIFT EFLEPAANET VRHGCLRLNQ PTHVNNGNYT 
    LLAANPFGQA SASIMAAFMD NPFEFNPEDP IPVSFSPVDT NSTSGDPVEK KDETPFGVSV 
    AVGLAVFACL FLSTLLLVLN KCGRRNKFGI NRPAVLAPED GLAMSLHFMT LGGSSLSPTE 
    GKGSGLQGHI IENPQYFSDA CVHHIKRRDI VLKWELGEGA FGKVFLAECH NLLPEQDKML 
    VAVKALKEAS ESARQDFQRE AELLTMLQHQ HIVRFFGVCT EGRPLLMVFE YMRHGDLNRF 
    LRSHGPDAKL LAGGEDVAPG PLGLGQLLAV ASQVAAGMVY LAGLHFVHRD LATRNCLVGQ 
    GLVVKIGDFG MSRDIYSTDY YRVGGRTMLP IRWMPPESIL YRKFTTESDV WSFGVVLWEI 
    FTYGKQPWYQ LSNTEAIDCI TQGRELERPR ACPPEVYAIM RGCWQREPQQ RHSIKDVHAR 
    LQALAQAPPV YLDVLG

Genular Protein ID: 302292927

Symbol: X5DR71_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

Sequence Information:

  • Length: 790
  • Mass: 86880
  • Checksum: 25F05BADA8A2A50C
  • Sequence:
  • MLRGGRRGQL GWHSWAAGPG SLLAWLILAS AGAAPCPDAC CPHGSSGLRC TRDGALDSLH 
    HLPGAENLTE LYIENQQHLQ HLELRDLRGL GELRNLTIVK SGLRFVAPDA FHFTPRLSRL 
    NLSFNALESL SWKTVQGLSL QELVLSGNPL HCSCALRWLQ RWEEEGLGGV PEQKLQCHGQ 
    GPLAHMPNAS CGVPTLKVQV PNASVDVGDD VLLRCQVEGR GLEQAGWILT ELEQSATVMK 
    SGGLPSLGLT LANVTSDLNR KNVTCWAEND VGRAEVSVQV NVSFPASVQL HTAVEMHHWC 
    IPFSVDGQPA PSLRWLFNGS VLNETSFIFT EFLEPAANET VRHGCLRLNQ PTHVNNGNYT 
    LLAANPFGQA SASIMAAFMD NPFEFNPEDP IPDTNSTSGD PVEKKDETPF GVSVAVGLAV 
    FACLFLSTLL LVLNKCGRRN KFGINRPAVL APEDGLAMSL HFMTLGGSSL SPTEGKGSGL 
    QGHIIENPQY FSDACVHHIK RRDIVLKWEL GEGAFGKVFL AECHNLLPEQ DKMLVAVKAL 
    KEASESARQD FQREAELLTM LQHQHIVRFF GVCTEGRPLL MVFEYMRHGD LNRFLRSHGP 
    DAKLLAGGED VAPGPLGLGQ LLAVASQVAA GMVYLAGLHF VHRDLATRNC LVGQGLVVKI 
    GDFGMSRDIY STDYYRVGGR TMLPIRWMPP ESILYRKFTT ESDVWSFGVV LWEIFTYGKQ 
    PWYQLSNTEA IDCITQGREL ERPRACPPEV YAIMRGCWQR EPQQRHSIKD VHARLQALAQ 
    APPVYLDVLG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.